Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC

Journal Article

IN., Erzurumluoglu AM, Alsaadi MM, Rodriguez S, Alotaibi TS, Guthrie PA, Lewis S, Ginwalla A, Gaunt TR, Alharbi KK, Alsaif FM, Alsaadi BM, Day . 2015